188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
July 2025 in “Ultrasound in Medicine & Biology” 
November 2015 in “韓方眼耳鼻咽喉皮膚科學會誌 = The journal of Korean Medicine Ophthalmology & Otolaryngology & Dermatology” I'm sorry, but I can't process documents in Korean. If you provide an English text, I'd be happy to summarize the conclusion for you.
February 2023 in “Default Digital Object Group” January 2003 in “Dermatology” 7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
January 2005 in “Dermatology” 5 citations
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
45 citations
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March 1997 in “Journal of Investigative Dermatology” June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
January 2026 in “Clinical Chemistry and Laboratory Medicine (CCLM)” The procedure accurately measures 5-alpha-dihydrotestosterone in blood, useful for standard tests.
5 citations
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January 2018 The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
288 citations
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
60 citations
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December 1988 in “Journal of Biochemical Toxicology” TCDD reduces EGF receptors in the liver, affecting growth and development.
1 citations
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January 1989 in “Carcinogenesis” Dexamethasone reduces inflammation and delays skin cell changes caused by TPA.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
1 citations
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July 2024 in “Journal of Investigative Dermatology” TAK-279 effectively reduces psoriasis symptoms and is safe.
January 2013 in “Journal of The Korean Medical Association” The document's conclusion cannot be provided because the text is in Korean and cannot be parsed.
7 citations
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October 2019 in “Clinical, Cosmetic and Investigational Dermatology” Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
61 citations
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April 2014 in “Radiation Research” RTA 408 cream protects mice from radiation skin damage.
215 citations
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November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
November 2022 in “The Caucasus” The document's conclusion cannot be provided because the content is not in a readable format.
July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.